Department of Dermatology, University of California Irvine Health, 118 Med Surg 1, Irvine, CA, 92697, USA.
Department of Dermatology, St. George Hospital, Gray Street, Kogarah, Sydney, NSW, Australia.
Clin Rev Allergy Immunol. 2018 Feb;54(1):26-51. doi: 10.1007/s12016-017-8633-4.
Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies and immunoserological assays. Management of affected patients is often challenging. We will here review the clinical and immunopathological features as well as the pathophysiology of this group of organ-specific autoimmune diseases. Finally, we will discuss the diagnostic approach and the principles of management in clinical practice.
自身免疫性表皮下水疱性皮肤病是一组有时具有破坏性的疾病，包括大疱性类天疱疮、妊娠疱疹、黏膜类天疱疮、获得性大疱性表皮松解症和抗 p200 天疱疮。其临床表现呈多形性。这些自身免疫性水疱性疾病与针对分层上皮基底层不同成分的自身抗体有关。这些自身抗原代表维持皮肤-表皮完整性的重要结构蛋白。大疱性类天疱疮（BP）是皮肤和黏膜最常见的自身免疫性表皮下水疱性疾病。尽管该疾病通常表现为伴有瘙痒的全身性水疱性皮疹，但在大约 20%的患者中观察到具有局部水疱性病变或“非水疱性”表现的不典型变异型。与妊娠相关的一种特殊形式的 BP 通常为妊娠疱疹。在抗 p200 天疱疮中，患者表现为紧张性水疱，出现在红斑或正常皮肤上，类似于 BP，好发于肢端表面。这些患者的抗体针对 200kDa 基底膜蛋白。获得性大疱性表皮松解症是一种罕见的自身免疫性水疱性疾病，与针对 VII 型胶原的自身抗体有关，其表型可包括类似于营养不良性大疱性表皮松解症的经典形式、类似于 BP 的炎症表现或黏膜类天疱疮样病变。黏膜类天疱疮（MMP）是国际共识对一种影响一个或多个黏膜并可能累及皮肤的自身免疫性水疱性疾病的术语。该疾病涉及基底层区的多种不同自身抗原。它可能导致严重的并发症，如瘢痕形成导致的失明和狭窄。这些疾病的诊断依赖于直接免疫荧光显微镜研究和免疫血清学检测。受影响患者的管理通常具有挑战性。我们将在这里回顾这一组器官特异性自身免疫性疾病的临床和免疫病理学特征以及发病机制。最后，我们将讨论诊断方法和临床实践中的管理原则。
